Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial; autosomal dominant congenital cataract (ADCC) appears to be the most common familial form in the Western world. We have mapped an ADCC gene in family ADCC-2 to chromosome 21q22.3 near the alpha-crystallin gene CRYAA. By sequencing the coding regions of CRYAA, we found that a missense mutation, R116C, is associated with ADCC in this family.
Litt
M
M
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR 97201, USA. litt@ohsu.edu
Kramer
P
P
LaMorticella
D M
DM
Murphey
W
W
Lovrien
E W
EW
Weleber
R G
RG
D000595:Amino Acid Sequence; D000818:Animals; D002386:Cataract / Q000151:congenital / Q000235:genetics*; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D003459:Crystallins / Q000235:genetics*; D005091:Exons; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007438:Introns; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
D003459:Crystallins; D005819:Genetic Markers